A49V (p.Ala49Val) variant of GATA1 (Erythroid transcription factor)
A49V (p.Ala49Val) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- gnomAD rs2062674001
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.21
- MetaLR 0.79
- MetaSVM 0.18
- CADD 9.87
- PolyPhen-2 0.02
- SIFT 0.60
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available